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Volumn 12, Issue 3, 2006, Pages 113-121

Spinal muscular atrophy: The RNP connection

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; HISTONE DEACETYLASE INHIBITOR; INTERFERON; NEUROTROPHIC FACTOR; PROTEIN SUBUNIT; RIBONUCLEOPROTEIN; RILUZOLE; SURVIVAL MOTOR NEURON PROTEIN; VALPROIC ACID;

EID: 33644990213     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2006.01.005     Document Type: Article
Times cited : (99)

References (93)
  • 1
    • 12344287789 scopus 로고    scopus 로고
    • Light in retinitis pigmentosa
    • A. Kennan Light in retinitis pigmentosa Trends Genet. 21 2005 103 110
    • (2005) Trends Genet. , vol.21 , pp. 103-110
    • Kennan, A.1
  • 2
    • 0034788276 scopus 로고    scopus 로고
    • Molecular mechanisms in spinal muscular atrophy: Models and perspectives
    • M. Sendtner Molecular mechanisms in spinal muscular atrophy: models and perspectives Curr. Opin. Neurol. 14 2001 629 634
    • (2001) Curr. Opin. Neurol. , vol.14 , pp. 629-634
    • Sendtner, M.1
  • 3
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • N.A. Faustino, and T.A. Cooper Pre-mRNA splicing and human disease Genes Dev. 17 2003 419 437
    • (2003) Genes Dev. , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 4
    • 0035092134 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Present state
    • H. Schmalbruch, and G. Haase Spinal muscular atrophy: present state Brain Pathol. 11 2001 231 247
    • (2001) Brain Pathol. , vol.11 , pp. 231-247
    • Schmalbruch, H.1    Haase, G.2
  • 5
    • 0029809929 scopus 로고    scopus 로고
    • Spinal muscular atrophies: Recent insights and impact on molecular diagnosis
    • C. Brahe, and E. Bertini Spinal muscular atrophies: recent insights and impact on molecular diagnosis J. Mol. Med. 74 1996 555 562
    • (1996) J. Mol. Med. , vol.74 , pp. 555-562
    • Brahe, C.1    Bertini, E.2
  • 6
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • S. Lefebvre Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1
  • 7
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • C.L. Lorson, and E.J. Androphy An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN Hum. Mol. Genet. 9 2000 259 265
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 8
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • S. Lefebvre Correlation between severity and SMN protein level in spinal muscular atrophy Nat. Genet. 16 1997 265 269
    • (1997) Nat. Genet. , vol.16 , pp. 265-269
    • Lefebvre, S.1
  • 9
    • 0030931720 scopus 로고    scopus 로고
    • Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
    • B. Schrank Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos Proc. Natl. Acad. Sci. U. S. A. 94 1997 9920 9925
    • (1997) Proc. Natl. Acad. Sci. U. S. A. , vol.94 , pp. 9920-9925
    • Schrank, B.1
  • 10
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • C.L. Lorson A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Proc. Natl. Acad. Sci. U. S. A. 96 1999 6307 6311
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 6307-6311
    • Lorson, C.L.1
  • 11
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • U.R. Monani A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum. Mol. Genet. 8 1999 1177 1183
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1177-1183
    • Monani, U.R.1
  • 12
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • T. Kashima, and J.L. Manley A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy Nat. Genet. 34 2003 460 463
    • (2003) Nat. Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 13
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • L. Cartegni, and A.R. Krainer Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 Nat. Genet. 30 2002 377 384
    • (2002) Nat. Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 14
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Y. Hofmann Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) Proc. Natl. Acad. Sci. U. S. A. 97 2000 9618 9623
    • (2000) Proc. Natl. Acad. Sci. U. S. A. , vol.97 , pp. 9618-9623
    • Hofmann, Y.1
  • 15
    • 0036501065 scopus 로고    scopus 로고
    • SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1
    • P.J. Young SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1 Hum. Mol. Genet. 11 2002 577 587
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 577-587
    • Young, P.J.1
  • 16
    • 29244490598 scopus 로고    scopus 로고
    • Determinants of exon 7 identity in the spinal muscular atrophy genes, SMN1 and SMN2
    • L. Cartegni Determinants of exon 7 identity in the spinal muscular atrophy genes, SMN1 and SMN2 Am. J. Hum. Genet. 78 2006 63 77
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 63-77
    • Cartegni, L.1
  • 17
    • 0343293980 scopus 로고    scopus 로고
    • The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1
    • S. Hannus The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1 Hum. Mol. Genet. 9 2000 663 674
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 663-674
    • Hannus, S.1
  • 18
    • 0034604713 scopus 로고    scopus 로고
    • The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms
    • S. Paushkin The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms J. Biol. Chem. 275 2000 23841 23846
    • (2000) J. Biol. Chem. , vol.275 , pp. 23841-23846
    • Paushkin, S.1
  • 19
    • 0034624252 scopus 로고    scopus 로고
    • Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila
    • I. Miguel-Aliaga Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila FEBS Lett. 486 2000 99 102
    • (2000) FEBS Lett. , vol.486 , pp. 99-102
    • Miguel-Aliaga, I.1
  • 20
    • 0032718045 scopus 로고    scopus 로고
    • The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
    • I. Miguel-Aliaga The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability Hum. Mol. Genet. 8 1999 2133 2143
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2133-2143
    • Miguel-Aliaga, I.1
  • 21
    • 0033987669 scopus 로고    scopus 로고
    • A mouse model for spinal muscular atrophy
    • H.M. Hsieh-Li A mouse model for spinal muscular atrophy Nat. Genet. 24 2000 66 70
    • (2000) Nat. Genet. , vol.24 , pp. 66-70
    • Hsieh-Li, H.M.1
  • 22
    • 0034639745 scopus 로고    scopus 로고
    • Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
    • S. Jablonka Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III Hum. Mol. Genet. 9 2000 341 346
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 341-346
    • Jablonka, S.1
  • 23
    • 0033765283 scopus 로고    scopus 로고
    • Animal models of spinal muscular atrophy
    • U.R. Monani Animal models of spinal muscular atrophy Hum. Mol. Genet. 9 2000 2451 2457
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2451-2457
    • Monani, U.R.1
  • 24
    • 0034639645 scopus 로고    scopus 로고
    • -/- mice and results in a mouse with spinal muscular atrophy
    • -/- mice and results in a mouse with spinal muscular atrophy Hum. Mol. Genet. 9 2000 333 339
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 333-339
    • Monani, U.R.1
  • 25
    • 0036194714 scopus 로고    scopus 로고
    • Motor unit number estimation in infants and children with spinal muscular atrophy
    • M.B. Bromberg, and K.J. Swoboda Motor unit number estimation in infants and children with spinal muscular atrophy Muscle Nerve 25 2002 445 447
    • (2002) Muscle Nerve , vol.25 , pp. 445-447
    • Bromberg, M.B.1    Swoboda, K.J.2
  • 26
    • 0034701295 scopus 로고    scopus 로고
    • Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
    • T. Frugier Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy Hum. Mol. Genet. 9 2000 849 858
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 849-858
    • Frugier, T.1
  • 27
    • 0035809926 scopus 로고    scopus 로고
    • Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
    • C. Cifuentes-Diaz Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy J. Cell Biol. 152 2001 1107 1114
    • (2001) J. Cell Biol. , vol.152 , pp. 1107-1114
    • Cifuentes-Diaz, C.1
  • 28
    • 0842290736 scopus 로고    scopus 로고
    • Axonal defects in mouse models of motoneuron disease
    • S. Jablonka Axonal defects in mouse models of motoneuron disease J. Neurobiol. 58 2004 272 286
    • (2004) J. Neurobiol. , vol.58 , pp. 272-286
    • Jablonka, S.1
  • 29
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
    • W. Rossoll Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons J. Cell Biol. 163 2003 801 812
    • (2003) J. Cell Biol. , vol.163 , pp. 801-812
    • Rossoll, W.1
  • 30
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • M.L. McWhorter Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding J. Cell Biol. 162 2003 919 931
    • (2003) J. Cell Biol. , vol.162 , pp. 919-931
    • McWhorter, M.L.1
  • 31
    • 28744434333 scopus 로고    scopus 로고
    • The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
    • F. Gabanella The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation Hum. Mol. Genet. 14 2005 3629 3642
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3629-3642
    • Gabanella, F.1
  • 32
    • 0035282740 scopus 로고    scopus 로고
    • Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
    • S. Jablonka Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy Hum. Mol. Genet. 10 2001 497 505
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 497-505
    • Jablonka, S.1
  • 33
    • 0029954338 scopus 로고    scopus 로고
    • A novel nuclear structure containing the survival of motor neurons protein
    • Q. Liu, and G. Dreyfuss A novel nuclear structure containing the survival of motor neurons protein EMBO J. 15 1996 3555 3565
    • (1996) EMBO J. , vol.15 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 34
    • 0033571601 scopus 로고    scopus 로고
    • The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body
    • T. Carvalho The spinal muscular atrophy disease gene product, SMN: a link between snRNP biogenesis and the Cajal (coiled) body J. Cell Biol. 147 1999 715 728
    • (1999) J. Cell Biol. , vol.147 , pp. 715-728
    • Carvalho, T.1
  • 35
    • 1542569574 scopus 로고    scopus 로고
    • Cajal bodies
    • A.G. Matera Cajal bodies Curr. Biol. 13 2003 R503
    • (2003) Curr. Biol. , vol.13 , pp. 503
    • Matera, A.G.1
  • 36
    • 9144256043 scopus 로고    scopus 로고
    • Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein
    • M. Malatesta Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein Exp. Cell Res. 292 2004 312 321
    • (2004) Exp. Cell Res. , vol.292 , pp. 312-321
    • Malatesta, M.1
  • 37
    • 0036809734 scopus 로고    scopus 로고
    • SMN-mediated assembly of RNPs: A complex story
    • G. Meister SMN-mediated assembly of RNPs: a complex story Trends Cell Biol. 12 2002 472 478
    • (2002) Trends Cell Biol. , vol.12 , pp. 472-478
    • Meister, G.1
  • 38
    • 2142754136 scopus 로고    scopus 로고
    • The SMN complex
    • A.K. Gubitz The SMN complex Exp. Cell Res. 296 2004 51 56
    • (2004) Exp. Cell Res. , vol.296 , pp. 51-56
    • Gubitz, A.K.1
  • 39
    • 0035370526 scopus 로고    scopus 로고
    • Spliceosomal UsnRNP biogenesis, structure and function
    • C.L. Will, and R. Luhrmann Spliceosomal UsnRNP biogenesis, structure and function Curr. Opin. Cell Biol. 13 2001 290 301
    • (2001) Curr. Opin. Cell Biol. , vol.13 , pp. 290-301
    • Will, C.L.1    Luhrmann, R.2
  • 40
    • 0035735484 scopus 로고    scopus 로고
    • A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
    • G. Meister A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs Nat. Cell Biol. 3 2001 945 949
    • (2001) Nat. Cell Biol. , vol.3 , pp. 945-949
    • Meister, G.1
  • 41
    • 2242443509 scopus 로고    scopus 로고
    • Essential role for the SMN complex in the specificity of snRNP assembly
    • L. Pellizzoni Essential role for the SMN complex in the specificity of snRNP assembly Science 298 2002 1775 1779
    • (2002) Science , vol.298 , pp. 1775-1779
    • Pellizzoni, L.1
  • 42
    • 0036845335 scopus 로고    scopus 로고
    • Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs
    • G. Meister, and U. Fischer Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs EMBO J. 21 2002 5853 5863
    • (2002) EMBO J. , vol.21 , pp. 5853-5863
    • Meister, G.1    Fischer, U.2
  • 43
    • 0035846546 scopus 로고    scopus 로고
    • Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln
    • G. Meister Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln Curr. Biol. 11 2001 1990 1994
    • (2001) Curr. Biol. , vol.11 , pp. 1990-1994
    • Meister, G.1
  • 44
    • 0035197005 scopus 로고    scopus 로고
    • The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins
    • W.J. Friesen The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins Mol. Cell. Biol. 21 2001 8289 8300
    • (2001) Mol. Cell. Biol. , vol.21 , pp. 8289-8300
    • Friesen, W.J.1
  • 45
    • 6344258807 scopus 로고    scopus 로고
    • Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein
    • U. Narayanan Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein Mol. Cell 16 2004 223 234
    • (2004) Mol. Cell , vol.16 , pp. 223-234
    • Narayanan, U.1
  • 46
    • 0141818102 scopus 로고    scopus 로고
    • Unique Sm core structure of U7 snRNPs: Assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing
    • R.S. Pillai Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing Genes Dev. 17 2003 2321 2333
    • (2003) Genes Dev. , vol.17 , pp. 2321-2333
    • Pillai, R.S.1
  • 47
    • 0035975962 scopus 로고    scopus 로고
    • Macromolecular complexes: SMN - The master assembler
    • M.P. Terns, and R.M. Terns Macromolecular complexes: SMN - the master assembler Curr. Biol. 11 2001 R862 R864
    • (2001) Curr. Biol. , vol.11
    • Terns, M.P.1    Terns, R.M.2
  • 48
    • 0034641609 scopus 로고    scopus 로고
    • Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
    • G. Meister Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins Hum. Mol. Genet. 9 2000 1977 1986
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1977-1986
    • Meister, G.1
  • 49
    • 0032567036 scopus 로고    scopus 로고
    • A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    • L. Pellizzoni A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing Cell 95 1998 615 624
    • (1998) Cell , vol.95 , pp. 615-624
    • Pellizzoni, L.1
  • 50
    • 0035476679 scopus 로고    scopus 로고
    • SMN interacts with a novel family of hnRNP and spliceosomal proteins
    • Z. Mourelatos SMN interacts with a novel family of hnRNP and spliceosomal proteins EMBO J. 20 2001 5443 5452
    • (2001) EMBO J. , vol.20 , pp. 5443-5452
    • Mourelatos, Z.1
  • 51
    • 0035825155 scopus 로고    scopus 로고
    • A functional interaction between the survival motor neuron complex and RNA polymerase II
    • L. Pellizzoni A functional interaction between the survival motor neuron complex and RNA polymerase II J. Cell Biol. 152 2001 75 85
    • (2001) J. Cell Biol. , vol.152 , pp. 75-85
    • Pellizzoni, L.1
  • 52
    • 0032771012 scopus 로고    scopus 로고
    • Identification of survival motor neuron as a transcriptional activator-binding protein
    • J. Strasswimmer Identification of survival motor neuron as a transcriptional activator-binding protein Hum. Mol. Genet. 8 1999 1219 1226
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1219-1226
    • Strasswimmer, J.1
  • 53
    • 0035158971 scopus 로고    scopus 로고
    • Functional cooperation of Epstein-Barr virus nuclear antigen 2 and the survival motor neuron protein in transactivation of the viral LMP1 promoter
    • M.D. Voss Functional cooperation of Epstein-Barr virus nuclear antigen 2 and the survival motor neuron protein in transactivation of the viral LMP1 promoter J. Virol. 75 2001 11781 11790
    • (2001) J. Virol. , vol.75 , pp. 11781-11790
    • Voss, M.D.1
  • 54
    • 0034639998 scopus 로고    scopus 로고
    • Direct interaction of Smn with dp103, a putative RNA helicase: A role for Smn in transcription regulation?
    • L. Campbell Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? Hum. Mol. Genet. 9 2000 1093 1100
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1093-1100
    • Campbell, L.1
  • 55
    • 0037215580 scopus 로고    scopus 로고
    • A novel domain within the DEAD-box protein DP103 is essential for transcriptional repression and helicase activity
    • X. Yan A novel domain within the DEAD-box protein DP103 is essential for transcriptional repression and helicase activity Mol. Cell. Biol. 23 2003 414 423
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 414-423
    • Yan, X.1
  • 56
    • 0036154096 scopus 로고    scopus 로고
    • Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: A role for Smn in RNA processing in motor axons?
    • W. Rossoll Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum. Mol. Genet. 11 2002 93 105
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 93-105
    • Rossoll, W.1
  • 57
    • 0042202619 scopus 로고    scopus 로고
    • Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
    • H.L. Zhang Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization J. Neurosci. 23 2003 6627 6637
    • (2003) J. Neurosci. , vol.23 , pp. 6627-6637
    • Zhang, H.L.1
  • 58
    • 0033621413 scopus 로고    scopus 로고
    • A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems
    • T. Giesemann A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems J. Biol. Chem. 274 1999 37908 37914
    • (1999) J. Biol. Chem. , vol.274 , pp. 37908-37914
    • Giesemann, T.1
  • 59
    • 23944482483 scopus 로고    scopus 로고
    • A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells
    • A. Sharma A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells Exp. Cell Res. 309 2005 185 197
    • (2005) Exp. Cell Res. , vol.309 , pp. 185-197
    • Sharma, A.1
  • 60
    • 26244434407 scopus 로고    scopus 로고
    • Is spinal muscular atrophy the result of defects in motor neuron processes?
    • M. Briese Is spinal muscular atrophy the result of defects in motor neuron processes? Bioessays 27 2005 946 957
    • (2005) Bioessays , vol.27 , pp. 946-957
    • Briese, M.1
  • 61
    • 20744455958 scopus 로고    scopus 로고
    • The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy
    • L. Wan The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy Mol. Cell. Biol. 25 2005 5543 5551
    • (2005) Mol. Cell. Biol. , vol.25 , pp. 5543-5551
    • Wan, L.1
  • 62
    • 25844461744 scopus 로고    scopus 로고
    • Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
    • C. Winkler Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy Genes Dev. 19 2005 2320 2330
    • (2005) Genes Dev. , vol.19 , pp. 2320-2330
    • Winkler, C.1
  • 63
    • 28444454020 scopus 로고    scopus 로고
    • Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins
    • K.B. Shpargel, and A.G. Matera Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins Proc. Natl. Acad. Sci. U. S. A. 102 2005 17372 17377
    • (2005) Proc. Natl. Acad. Sci. U. S. A. , vol.102 , pp. 17372-17377
    • Shpargel, K.B.1    Matera, A.G.2
  • 64
    • 21244466271 scopus 로고    scopus 로고
    • Gemins modulate the expression and activity of the SMN complex
    • W. Feng Gemins modulate the expression and activity of the SMN complex Hum. Mol. Genet. 14 2005 1605 1611
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1605-1611
    • Feng, W.1
  • 65
    • 0037162519 scopus 로고    scopus 로고
    • Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death
    • S. Jablonka Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death Proc. Natl. Acad. Sci. U. S. A. 99 2002 10126 10131
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 10126-10131
    • Jablonka, S.1
  • 66
    • 0032873838 scopus 로고    scopus 로고
    • Conservation and divergence of axon guidance mechanisms
    • A. Chisholm, and M. Tessier-Lavigne Conservation and divergence of axon guidance mechanisms Curr. Opin. Neurobiol. 9 1999 603 615
    • (1999) Curr. Opin. Neurobiol. , vol.9 , pp. 603-615
    • Chisholm, A.1    Tessier-Lavigne, M.2
  • 67
    • 0033618883 scopus 로고    scopus 로고
    • Axon guidance at the central nervous system midline
    • G. Tear Axon guidance at the central nervous system midline Cell. Mol. Life Sci. 55 1999 1365 1376
    • (1999) Cell. Mol. Life Sci. , vol.55 , pp. 1365-1376
    • Tear, G.1
  • 68
    • 0141592403 scopus 로고    scopus 로고
    • Riluzole attenuates spinal muscular atrophy disease progression in a mouse model
    • H. Haddad Riluzole attenuates spinal muscular atrophy disease progression in a mouse model Muscle Nerve 28 2003 432 437
    • (2003) Muscle Nerve , vol.28 , pp. 432-437
    • Haddad, H.1
  • 69
    • 0034114604 scopus 로고    scopus 로고
    • Neuroprotection by the inhibition of apoptosis
    • G.S. Robertson Neuroprotection by the inhibition of apoptosis Brain Pathol. 10 2000 283 292
    • (2000) Brain Pathol. , vol.10 , pp. 283-292
    • Robertson, G.S.1
  • 70
    • 0344896685 scopus 로고    scopus 로고
    • A phase 1 trial of riluzole in spinal muscular atrophy
    • B.S. Russman A phase 1 trial of riluzole in spinal muscular atrophy Arch. Neurol. 60 2003 1601 1603
    • (2003) Arch. Neurol. , vol.60 , pp. 1601-1603
    • Russman, B.S.1
  • 71
    • 85047689522 scopus 로고    scopus 로고
    • Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
    • M. Azzouz Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy J. Clin. Invest. 114 2004 1726 1731
    • (2004) J. Clin. Invest. , vol.114 , pp. 1726-1731
    • Azzouz, M.1
  • 72
    • 26944447533 scopus 로고    scopus 로고
    • Chemical genetics and orphan genetic diseases
    • M.R. Lunn, and B.R. Stockwell Chemical genetics and orphan genetic diseases Chem. Biol. 12 2005 1063 1073
    • (2005) Chem. Biol. , vol.12 , pp. 1063-1073
    • Lunn, M.R.1    Stockwell, B.R.2
  • 73
    • 0035859952 scopus 로고    scopus 로고
    • Treatment of spinal muscular atrophy by sodium butyrate
    • J.G. Chang Treatment of spinal muscular atrophy by sodium butyrate Proc. Natl. Acad. Sci. U. S. A. 98 2001 9808 9813
    • (2001) Proc. Natl. Acad. Sci. U. S. A. , vol.98 , pp. 9808-9813
    • Chang, J.G.1
  • 74
    • 0242290062 scopus 로고    scopus 로고
    • Valproic acid increases SMN levels in spinal muscular atrophy patient cells
    • C.J. Sumner Valproic acid increases SMN levels in spinal muscular atrophy patient cells Ann. Neurol. 54 2003 647 654
    • (2003) Ann. Neurol. , vol.54 , pp. 647-654
    • Sumner, C.J.1
  • 75
    • 0141506887 scopus 로고    scopus 로고
    • Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
    • L. Brichta Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy Hum. Mol. Genet. 12 2003 2481 2489
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2481-2489
    • Brichta, L.1
  • 76
    • 10744229981 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
    • C. Andreassi Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy Eur. J. Hum. Genet. 12 2004 59 65
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 59-65
    • Andreassi, C.1
  • 77
    • 0035891862 scopus 로고    scopus 로고
    • Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
    • C. Andreassi Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients Hum. Mol. Genet. 10 2001 2841 2849
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2841-2849
    • Andreassi, C.1
  • 78
    • 26444523139 scopus 로고    scopus 로고
    • Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: Early leads towards a therapeutic for spinal muscular atrophy
    • J. Jarecki Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy Hum. Mol. Genet. 14 2005 2003 2018
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2003-2018
    • Jarecki, J.1
  • 79
    • 8844240017 scopus 로고    scopus 로고
    • Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
    • M.R. Lunn Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism Chem. Biol. 11 2004 1489 1493
    • (2004) Chem. Biol. , vol.11 , pp. 1489-1493
    • Lunn, M.R.1
  • 80
    • 9144269242 scopus 로고    scopus 로고
    • Pilot trial of phenylbutyrate in spinal muscular atrophy
    • E. Mercuri Pilot trial of phenylbutyrate in spinal muscular atrophy Neuromuscul. Disord. 14 2004 130 135
    • (2004) Neuromuscul. Disord. , vol.14 , pp. 130-135
    • Mercuri, E.1
  • 81
    • 13544258982 scopus 로고    scopus 로고
    • Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    • C. Brahe Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Eur. J. Hum. Genet. 13 2005 256 259
    • (2005) Eur. J. Hum. Genet. , vol.13 , pp. 256-259
    • Brahe, C.1
  • 82
    • 0034327218 scopus 로고    scopus 로고
    • Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
    • S. Baron-Delage Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes Mol. Med. 6 2000 957 968
    • (2000) Mol. Med. , vol.6 , pp. 957-968
    • Baron-Delage, S.1
  • 83
    • 20144385587 scopus 로고    scopus 로고
    • SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
    • T.T. Le SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN Hum. Mol. Genet. 14 2005 845 857
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 845-857
    • Le, T.T.1
  • 84
    • 0037388256 scopus 로고    scopus 로고
    • Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
    • L.A. Skordis Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts Proc. Natl. Acad. Sci. U. S. A. 100 2003 4114 4119
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 4114-4119
    • Skordis, L.A.1
  • 85
    • 0037313165 scopus 로고    scopus 로고
    • Correction of disease-associated exon skipping by synthetic exon-specific activators
    • L. Cartegni, and A.R. Krainer Correction of disease-associated exon skipping by synthetic exon-specific activators Nat. Struct. Biol. 10 2003 120 125
    • (2003) Nat. Struct. Biol. , vol.10 , pp. 120-125
    • Cartegni, L.1    Krainer, A.R.2
  • 86
    • 28444490312 scopus 로고    scopus 로고
    • Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs
    • Madocsai, C. et al. (2005) Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol. Ther. 12, 1013-1-22
    • (2005) Mol. Ther. , vol.12
    • Madocsai, C.1
  • 87
    • 18144431041 scopus 로고    scopus 로고
    • A non-sequence-specific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels
    • E.C. Wolstencroft A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels Hum. Mol. Genet. 14 2005 1199 1210
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1199-1210
    • Wolstencroft, E.C.1
  • 88
    • 21444431780 scopus 로고    scopus 로고
    • Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs
    • M. Grimmler Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs EMBO Rep. 6 2005 70 76
    • (2005) EMBO Rep. , vol.6 , pp. 70-76
    • Grimmler, M.1
  • 89
    • 0034161419 scopus 로고    scopus 로고
    • Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases
    • B.J. Blencowe Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases Trends Biochem. Sci. 25 2000 106 110
    • (2000) Trends Biochem. Sci. , vol.25 , pp. 106-110
    • Blencowe, B.J.1
  • 90
    • 0042671357 scopus 로고    scopus 로고
    • Pre-mRNA splicing: Awash in a sea of proteins
    • M.S. Jurica, and M.J. Moore Pre-mRNA splicing: awash in a sea of proteins Mol. Cell 12 2003 5 14
    • (2003) Mol. Cell , vol.12 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 91
    • 0036948420 scopus 로고    scopus 로고
    • Allosteric cascade of spliceosome activation
    • D.A. Brow Allosteric cascade of spliceosome activation Annu. Rev. Genet. 36 2002 333 360
    • (2002) Annu. Rev. Genet. , vol.36 , pp. 333-360
    • Brow, D.A.1
  • 92
    • 0033524941 scopus 로고    scopus 로고
    • Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs
    • C. Kambach Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs Cell 96 1999 375 387
    • (1999) Cell , vol.96 , pp. 375-387
    • Kambach, C.1
  • 93
    • 12344275917 scopus 로고    scopus 로고
    • Biogenesis of small nuclear RNPs
    • T. Kiss Biogenesis of small nuclear RNPs J. Cell Sci. 117 2004 5949 5951
    • (2004) J. Cell Sci. , vol.117 , pp. 5949-5951
    • Kiss, T.1


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